CASK
Summary: This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| calcium/calmodulin dependent serine protein kinase | MIM:300172 | Ensembl:ENSG00000147044 | HGNC:HGNC:1497 | PA26081 | Xp11.4 |
GO terms in CASK
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005604 | basement membrane |
| CC | IDA | GO:0005604 | basement membrane |
| CC | IDA | GO:0005652 | nuclear lamina |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005911 | cell-cell junction |
| CC | HDA | GO:0005925 | focal adhesion |
| CC | TAS | GO:0015629 | actin cytoskeleton |
| CC | IDA | GO:0016363 | nuclear matrix |
| CC | ISS | GO:0042734 | presynaptic membrane |
| CC | ISS | GO:0060170 | ciliary membrane |
| BP | IMP | GO:0001953 | negative regulation of cell-matrix adhesion |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | TAS | GO:0007155 | cell adhesion |
| BP | TAS | GO:0007269 | neurotransmitter secretion |
| BP | IDA | GO:0010839 | negative regulation of keratinocyte proliferation |
| BP | IMP | GO:0010839 | negative regulation of keratinocyte proliferation |
| BP | IEA | GO:0046037 | GMP metabolic process |
| BP | IEA | GO:0046710 | GDP metabolic process |
| BP | IMP | GO:0061045 | negative regulation of wound healing |
| BP | IMP | GO:0090288 | negative regulation of cellular response to growth factor stimulus |
| MF | TAS | GO:0004385 | guanylate kinase activity |
| MF | IEA | GO:0004674 | protein serine/threonine kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005516 | calmodulin binding |
| MF | IEA | GO:0005524 | ATP binding |
Gene expression in normal tissue: CASK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CASK
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-212676 | Dopamine Neurotransmitter Release Cycle |
| reactome | R-HSA-3000170 | Syndecan interactions |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-373753 | Nephrin family interactions |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| wikipathways | WP2359 | Parkin-Ubiquitin Proteasomal System pathway |
| wikipathways | WP4148 | Splicing factor NOVA regulated synaptic proteins |
| pid | syndecan_1_pathway | Syndecan-1-mediated signaling events |
| pid | syndecan_2_pathway | Syndecan-2-mediated signaling events |
| pid | syndecan_3_pathway | Syndecan-3-mediated signaling events |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD211 | (1S,3R)-RSL3 | 2 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 1 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD1036 | X17AAG | 1 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD584 | VER 155008 | 2 |
| iGMDRD607 | Ubistatin B | 5 |
| iGMDRD248 | BRD4354 | 1 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD263 | AACOCF3 | 2 |
| iGMDRD871 | BRD6368 | 5 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD105 | Triptolide | 1 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD427 | ABT737 | 1 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD420 | Leucascandrolide A | 2 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD506 | Fedratinib | 5 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD885 | Compound 110 | 4 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD134 | Sorafenib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CASK
CLASSFICATION
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